Canonical Allele Identifier: CA2675209881

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483879-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483879T>C , CM000667.2:g.132483879T>C	GRCh38
NC_000005.9:g.131819571T>C , CM000667.1:g.131819571T>C	GRCh37
NC_000005.8:g.131847470T>C	NCBI36
NG_011450.1:g.11895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*72A>G MANE Select	ENSP00000245414.4:n.*72A>G
ENST00000638452.2:c.-169+34190T>C	ENSP00000492349.2:n.-169+34190T>C
ENST00000638504.1:n.206+63939T>C
ENST00000638568.2:c.-311+34190T>C	ENSP00000491158.2:n.-311+34190T>C
ENST00000639899.1:n.289+34190T>C
ENST00000640655.2:c.-637-2313T>C	ENSP00000491596.2:n.-637-2313T>C
ENST00000679786.1:n.130+2678A>G
ENST00000679921.1:c.292+2678A>G	ENSP00000505766.1:n.292+2678A>G
ENST00000679945.1:n.130+2678A>G
ENST00000679964.1:n.50+1788A>G
ENST00000680139.1:c.*72A>G	ENSP00000506148.1:n.*72A>G
ENST00000680380.1:n.136+483A>G
ENST00000680562.1:c.498A>G	ENSP00000505853.1:n.498A>G
ENST00000680594.1:n.136+483A>G
ENST00000680903.1:c.*72A>G	ENSP00000505720.1:n.*72A>G
ENST00000681049.1:n.50+1788A>G
ENST00000681240.1:c.300A>G	ENSP00000506034.1:n.300A>G
ENST00000681336.1:c.297A>G	ENSP00000505242.1:n.297A>G
ENST00000681634.1:n.136+483A>G
ENST00000681694.1:c.362A>G	ENSP00000506552.1:n.362A>G
ENST00000245414.8:c.*72A>G	ENSP00000245414.4:n.*72A>G
ENST00000405885.6:c.*72A>G	ENSP00000384406.1:n.*72A>G
ENST00000472045.1:n.4359A>G
NM_002198.2:c.*72A>G	NP_002189.1:n.*72A>G
XM_011543378.1:c.*72A>G	XP_011541680.1:n.*72A>G
XM_011543379.1:c.*72A>G	XP_011541681.1:n.*72A>G
XR_427711.2:n.1111A>G
NM_001354924.1:c.*72A>G	NP_001341853.1:n.*72A>G
NM_001354925.1:c.*72A>G	NP_001341854.1:n.*72A>G
NR_149068.1:n.1111A>G
XM_011543379.2:c.*72A>G	XP_011541681.1:n.*72A>G
NM_002198.3:c.*72A>G MANE Select	NP_002189.1:n.*72A>G